Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Insulin-Rezeptor-Substrat 2

Das vom IRS2-Gen kodierte ein Protein der Signaltransduktion. Es ist das Bindeglied verschiedener rezeptorgebundener Tyrosinkinasen und den intrazellulären Effektoren. Neben dem Insulinrezeptor vermittelt dieses Protein auch die Signale des IGF1-Rezeptors und verschiedener Zytokine. Mutationen werden mit einer Insulinresistenz und Typ 2 Diabetes in Verbindung gebracht.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Insulinresistenz
CIDEC
Diabetes mellitus mit Insulinresistenz und Acanthosis nigricans
INSR
ENPP1
IRS1
IRS2
PPARG

Referenzen:

1.

Böhni R et al. (1999) Autonomous control of cell and organ size by CHICO, a Drosophila homolog of vertebrate IRS1-4.

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2.

Taniguchi CM et al. (2005) Complementary roles of IRS-1 and IRS-2 in the hepatic regulation of metabolism.

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3.

Ogihara T et al. (1997) 14-3-3 protein binds to insulin receptor substrate-1, one of the binding sites of which is in the phosphotyrosine binding domain.

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4.

Terauchi Y et. al. (2007) Glucokinase and IRS-2 are required for compensatory beta cell hyperplasia in response to high-fat diet-induced insulin resistance.

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5.

Shimomura I et al. (2000) Decreased IRS-2 and increased SREBP-1c lead to mixed insulin resistance and sensitivity in livers of lipodystrophic and ob/ob mice.

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6.

Tobe K et al. (2001) Increased expression of the sterol regulatory element-binding protein-1 gene in insulin receptor substrate-2(-/-) mouse liver.

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7.

Withers DJ et al. (1999) Irs-2 coordinates Igf-1 receptor-mediated beta-cell development and peripheral insulin signalling.

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8.

Almind K et al. (1999) Search for variants of the gene-promoter and the potential phosphotyrosine encoding sequence of the insulin receptor substrate-2 gene: evaluation of their relation with alterations in insulin secretion and insulin sensitivity.

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9.

Burks DJ et al. (2000) IRS-2 pathways integrate female reproduction and energy homeostasis.

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10.

Mammarella S et al. (2000) Interaction between the G1057D variant of IRS-2 and overweight in the pathogenesis of type 2 diabetes.

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11.

Kubota N et al. (2000) Disruption of insulin receptor substrate 2 causes type 2 diabetes because of liver insulin resistance and lack of compensatory beta-cell hyperplasia.

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12.

Wang H et al. (2001) New amino acid substitutions in the IRS-2 gene in Finnish and Chinese subjects with late-onset type 2 diabetes.

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13.

Fritsche A et al. (2001) The prevalent Gly1057Asp polymorphism in the insulin receptor substrate-2 gene is not associated with impaired insulin secretion.

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14.

D'Alfonso R et al. (2003) Polymorphisms of the insulin receptor substrate-2 in patients with type 2 diabetes.

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15.

Lautier C et al. (2003) Complex haplotypes of IRS2 gene are associated with severe obesity and reveal heterogeneity in the effect of Gly1057Asp mutation.

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16.

Hennige AM et al. (2003) Upregulation of insulin receptor substrate-2 in pancreatic beta cells prevents diabetes.

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17.

Lin X et al. (2004) Dysregulation of insulin receptor substrate 2 in beta cells and brain causes obesity and diabetes.

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18.

Uchida T et al. (2005) Deletion of Cdkn1b ameliorates hyperglycemia by maintaining compensatory hyperinsulinemia in diabetic mice.

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19.

Taguchi A et al. (2007) Brain IRS2 signaling coordinates life span and nutrient homeostasis.

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20.

Selman C et al. (2008) Comment on "Brain IRS2 signaling coordinates life span and nutrient homeostasis".

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21.

Spiess CR et al. (2008) A victory for PETA.

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22.

Sun XJ et al. (1995) Role of IRS-2 in insulin and cytokine signalling.

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23.

Withers DJ et al. (1998) Disruption of IRS-2 causes type 2 diabetes in mice.

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